Incidental Mutation 'R6166:Fam117a'
ID 490155
Institutional Source Beutler Lab
Gene Symbol Fam117a
Ensembl Gene ENSMUSG00000038893
Gene Name family with sequence similarity 117, member A
Synonyms 5730593F17Rik
MMRRC Submission 044312-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.540) question?
Stock # R6166 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 95227844-95272698 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95271607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 393 (M393T)
Ref Sequence ENSEMBL: ENSMUSP00000049162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021243] [ENSMUST00000037502] [ENSMUST00000131193] [ENSMUST00000146556] [ENSMUST00000232252]
AlphaFold Q7TNF9
Predicted Effect probably benign
Transcript: ENSMUST00000021243
SMART Domains Protein: ENSMUSP00000021243
Gene: ENSMUSG00000020873

DomainStartEndE-ValueType
Pfam:TPT 12 309 1.3e-14 PFAM
Pfam:UAA 13 313 2.1e-58 PFAM
Pfam:EamA 170 309 1.9e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000037502
AA Change: M393T

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049162
Gene: ENSMUSG00000038893
AA Change: M393T

DomainStartEndE-ValueType
low complexity region 3 27 N/A INTRINSIC
Pfam:FAM117 86 397 3.6e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131193
SMART Domains Protein: ENSMUSP00000125307
Gene: ENSMUSG00000020873

DomainStartEndE-ValueType
Pfam:UAA 14 91 5.6e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141284
Predicted Effect probably benign
Transcript: ENSMUST00000146556
SMART Domains Protein: ENSMUSP00000125597
Gene: ENSMUSG00000020873

DomainStartEndE-ValueType
low complexity region 14 23 N/A INTRINSIC
Pfam:EmrE 38 149 3.9e-9 PFAM
Pfam:UAA 46 153 4.5e-30 PFAM
Pfam:EamA 63 146 1.4e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155999
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189860
Predicted Effect probably benign
Transcript: ENSMUST00000232252
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 97% (57/59)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot2 A T 12: 84,039,378 (GRCm39) N296Y probably damaging Het
Ago2 T A 15: 72,996,089 (GRCm39) I347L probably benign Het
Aldh1l2 C T 10: 83,329,288 (GRCm39) probably null Het
Ap1ar A G 3: 127,606,177 (GRCm39) probably null Het
Arap3 T C 18: 38,107,423 (GRCm39) T1365A probably damaging Het
Arhgef17 A T 7: 100,525,699 (GRCm39) H1966Q probably damaging Het
Arpp21 T C 9: 111,948,266 (GRCm39) T668A probably benign Het
Atg13 G T 2: 91,506,736 (GRCm39) Q479K probably damaging Het
Bmp8a T C 4: 123,218,471 (GRCm39) T183A probably benign Het
Camta2 G C 11: 70,565,087 (GRCm39) probably null Het
Catspere2 A G 1: 177,931,403 (GRCm39) T441A unknown Het
Ccdc40 T C 11: 119,122,827 (GRCm39) S210P probably benign Het
Cnn2 A G 10: 79,824,561 (GRCm39) E17G possibly damaging Het
Cnot6l T C 5: 96,227,799 (GRCm39) D478G possibly damaging Het
Cplane1 A G 15: 8,216,044 (GRCm39) H478R probably benign Het
Csf2rb A G 15: 78,228,766 (GRCm39) Y369C probably damaging Het
Dll4 A G 2: 119,165,107 (GRCm39) probably null Het
Efcab6 A G 15: 83,780,316 (GRCm39) V1039A probably benign Het
Fancd2 T A 6: 113,532,212 (GRCm39) N508K possibly damaging Het
Fat1 T C 8: 45,405,522 (GRCm39) S758P probably damaging Het
Fgf20 T C 8: 40,732,881 (GRCm39) K186E probably damaging Het
Filip1 T C 9: 79,726,736 (GRCm39) K628E probably damaging Het
Fsip2 G T 2: 82,811,071 (GRCm39) K2463N probably benign Het
Gm15446 T A 5: 110,090,646 (GRCm39) Y299* probably null Het
Gm7363 A T 7: 3,986,784 (GRCm39) noncoding transcript Het
Gpx5 A T 13: 21,473,435 (GRCm39) F104I probably damaging Het
Grip1 A T 10: 119,908,623 (GRCm39) I618F probably damaging Het
Hmcn2 G A 2: 31,259,274 (GRCm39) G1038D probably damaging Het
Lgals9 C T 11: 78,862,184 (GRCm39) A134T probably benign Het
Lrba G A 3: 86,261,614 (GRCm39) probably null Het
Lypd10 A T 7: 24,413,644 (GRCm39) Q220L probably benign Het
Naprt T C 15: 75,763,326 (GRCm39) Q439R possibly damaging Het
Ndufs6 G A 13: 73,466,060 (GRCm39) probably benign Het
Nodal C A 10: 61,260,337 (GRCm39) S329R probably damaging Het
Olfm3 T A 3: 114,916,074 (GRCm39) N315K probably damaging Het
Or4k2 C T 14: 50,424,225 (GRCm39) V150I probably benign Het
Or6c3b A T 10: 129,527,148 (GRCm39) I254K probably damaging Het
Or6k2 A G 1: 173,986,659 (GRCm39) T107A probably benign Het
Plg T A 17: 12,617,001 (GRCm39) V373E probably damaging Het
Prdm2 A C 4: 142,861,306 (GRCm39) S661R probably damaging Het
Psg21 A T 7: 18,390,664 (GRCm39) probably benign Het
Rhobtb2 T C 14: 70,035,627 (GRCm39) D148G probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Scaf11 A T 15: 96,322,543 (GRCm39) N116K probably damaging Het
Sf3a3 T C 4: 124,617,177 (GRCm39) probably benign Homo
Slc38a9 T G 13: 112,831,801 (GRCm39) Y184D possibly damaging Het
Sowahc A G 10: 59,058,182 (GRCm39) D106G probably benign Het
Srbd1 T C 17: 86,406,696 (GRCm39) Y563C probably damaging Het
Src A G 2: 157,310,442 (GRCm39) Y359C probably damaging Het
Tbc1d9b A G 11: 50,026,673 (GRCm39) D47G probably damaging Het
Tctn3 T C 19: 40,585,923 (GRCm39) K541E possibly damaging Het
Tgm7 A G 2: 120,929,539 (GRCm39) V245A probably damaging Het
Thbs2 C T 17: 14,900,650 (GRCm39) R519H probably damaging Het
Tm4sf19 T C 16: 32,226,681 (GRCm39) S157P probably damaging Het
Trio C T 15: 27,818,157 (GRCm39) S507N probably damaging Het
Trrap T A 5: 144,718,791 (GRCm39) H152Q possibly damaging Het
Vmn2r56 A G 7: 12,427,947 (GRCm39) L773P probably damaging Het
Vmn2r70 A G 7: 85,215,189 (GRCm39) L115P probably benign Het
Wdr59 C T 8: 112,199,293 (GRCm39) R631H probably damaging Het
Other mutations in Fam117a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02821:Fam117a APN 11 95,254,815 (GRCm39) splice site probably benign
IGL03027:Fam117a APN 11 95,268,399 (GRCm39) missense probably benign 0.00
R0328:Fam117a UTSW 11 95,266,452 (GRCm39) splice site probably benign
R0603:Fam117a UTSW 11 95,271,699 (GRCm39) missense probably damaging 0.99
R1779:Fam117a UTSW 11 95,269,779 (GRCm39) missense probably damaging 1.00
R1941:Fam117a UTSW 11 95,271,624 (GRCm39) missense probably damaging 1.00
R4801:Fam117a UTSW 11 95,254,896 (GRCm39) missense probably damaging 0.99
R4802:Fam117a UTSW 11 95,254,896 (GRCm39) missense probably damaging 0.99
R5328:Fam117a UTSW 11 95,254,996 (GRCm39) critical splice donor site probably null
R5368:Fam117a UTSW 11 95,266,459 (GRCm39) missense probably damaging 0.98
R6267:Fam117a UTSW 11 95,254,971 (GRCm39) missense possibly damaging 0.93
R6296:Fam117a UTSW 11 95,254,971 (GRCm39) missense possibly damaging 0.93
R7077:Fam117a UTSW 11 95,268,498 (GRCm39) missense probably benign 0.01
R7354:Fam117a UTSW 11 95,271,529 (GRCm39) missense probably damaging 1.00
R7670:Fam117a UTSW 11 95,269,660 (GRCm39) missense probably benign 0.00
R7673:Fam117a UTSW 11 95,262,322 (GRCm39) missense probably benign 0.15
R8176:Fam117a UTSW 11 95,227,965 (GRCm39) missense unknown
R8984:Fam117a UTSW 11 95,254,823 (GRCm39) critical splice acceptor site probably null
R9134:Fam117a UTSW 11 95,271,745 (GRCm39) nonsense probably null
R9250:Fam117a UTSW 11 95,228,071 (GRCm39) missense possibly damaging 0.83
R9367:Fam117a UTSW 11 95,271,570 (GRCm39) missense probably damaging 1.00
R9780:Fam117a UTSW 11 95,268,309 (GRCm39) missense possibly damaging 0.84
Z1088:Fam117a UTSW 11 95,262,350 (GRCm39) missense possibly damaging 0.50
Z1177:Fam117a UTSW 11 95,265,851 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCATTTTGAGCAGGAACCCAG -3'
(R):5'- CCAAGGAGCTCTGGAAAAGC -3'

Sequencing Primer
(F):5'- TGAGGCAGTCACCCTTCCAG -3'
(R):5'- AAGCACAGACTCTTCCGATGGTG -3'
Posted On 2017-10-10